Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.
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Montejo JM, Magallon M, Tizzano E, Solera J
Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.
Hum Mutat. 1999;13(2):160-5.
- PubMed ID
- 10094553 [ View in PubMed]
- Abstract
In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin. It included single-strand conformation polymorphism (SSCP) analysis of all functional regions of the gene and further sequencing of all fragments showing abnormal migration. In 76 patients (90.4%), it was possible to identify molecular alterations leading to the appearance of the disease. Twenty-one new mutations were identified, including 13 missense mutations, two nonsense mutations, three splice-site mutations, one frameshift deletion, one frameshift insertion, and one non-frameshift deletion. The approach appears to be very suitable for molecular diagnosis of hemophilia B.